Stories

Craniosynostosis Collaboration with Dr. Matt Speltz

Twenty years ago, Dr. Matthew Speltz was running a day treatment center for pediatric behavior problems at Seattle Children’s, when he received a referral from the craniofacial clinic. And then another, and another — mostly children who suffered from cleft lip and palate.

His curiosity regarding these conditions sent him paging through journals, developing questions about the psychological and neurodevelopmental impact of these skull and facial malformations.

"The first study I did in this area, actually, was looking into how cleft lip and palate may affect the mother/child bond and the development of infant attachment — that’s what got me started, as a psychologist, researching craniofacial conditions," explains Dr. Speltz.

Over time, the connection between craniofacial deformities and psychiatric problems came into focus, and his interest in the outcomes of conditions such as single-suture craniosynostosis intensified.

Infants are born with openings between the bony plates of the skull, so that the brain can expand and the skull can accommodate the growth. If one of these openings, or sutures, is fused at birth — single-suture craniosynostosis — then the brain will show compensatory growth in another direction, resulting in an abnormal appearance to the skull.

The separation between the bony plates is created through a corrective surgery that typically occurs within a few days or weeks of diagnosis — most of Speltz’s subjects are first seen at 5 or 6 months of age. And most do well, going on to live fairly normal lives.

However, older kids who have undergone the surgery tend to have a high risk of learning disabilities — about three to five times higher than average. There appears to be some relationship between craniosynostosis and neurodevelopment, but the nature of that relationship is unknown. Dr. Speltz’s current research focuses on that relationship.

Dr. Speltz is the principal investigator for the Infant Learning Project, a multi-site, five-year longitudinal study with three participating centers in Chicago, St. Louis, and Atlanta.

The study aims to answer questions about the relationship between neurobehavioral development and abnormality in bone and brain tissue, the presence of genetic mutations and the potential of developing a predictive model of outcomes at 3 years of age for infants with craniosynostosis.

But even beyond that, the study will help to illuminate the process of diagnosing these conditions and associated neurodevelopmental features.

Given that these are relatively rare conditions — the probability of any single skull suture being fused is approximately one in 2,000 to 3,000 live births — pediatricians are not always on guard to detect the abnormality.

Speltz hopes that the questions in the study regarding the discovery of the condition will lead to earlier diagnosis of its neurodevelopmental correlates. “The earlier we can assess the developmental status of these infants, the earlier we can put high-risk kids into interventions that are known to be highly effective in preventing learning disabilities,” explains Speltz.

As an active clinician — his “day job,” as he calls it — Speltz is the director of the outpatient child psychiatry clinic.

As an investigator, he works with multidisciplinary teams of researchers, collaborating to better understand how the developing cranium affects human brain growth and function.

When asked about his co-investigator colleagues here at Children’s, he responds, “Children’s is ideal given the group of disciplines practicing here, and the ready interface with genetics, surgery, pediatrics, psychology and biomedical staff — it’s really only places like Children’s that bring these practitioners together.”

After a pause, he adds, “If I hadn’t been referred kids with craniofacial disorders, I wouldn’t have done this research.”

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